NM_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met)
|
rs61757218
|
0.00685
|
NM_152467.5(KLHL10):c.647A>C (p.Gln216Pro)
|
rs116420871
|
0.00367
|
NM_031276.3(TEX11):c.405C>T (p.Ala135=)
|
rs147088100
|
0.00245
|
NM_001321739.2(M1AP):c.676dup (p.Trp226fs)
|
rs144217347
|
0.00238
|
NM_001271862.2(PNLDC1):c.809T>C (p.Met270Thr)
|
rs141903829
|
0.00192
|
NM_031276.3(TEX11):c.2047G>A (p.Ala683Thr)
|
rs140984555
|
0.00183
|
NM_001101677.2(SOHLH1):c.346-1G>A
|
rs140132974
|
0.00173
|
NM_144666.3(DNHD1):c.8782C>T (p.Arg2928Ter)
|
rs199752008
|
0.00136
|
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)
|
rs147021911
|
0.00104
|
NM_144668.6(CFAP251):c.331G>T (p.Glu111Ter)
|
rs199671406
|
0.00096
|
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)
|
rs144567652
|
0.00088
|
NM_052961.4(SLC26A8):c.2434G>A (p.Glu812Lys)
|
rs142724470
|
0.00075
|
NM_001366900.1(TTC21A):c.3095+5G>T
|
rs148431487
|
0.00058
|
NM_031276.3(TEX11):c.466A>G (p.Met156Val)
|
rs143246552
|
0.00053
|
NM_001206927.2(DNAH8):c.9427C>T (p.Arg3143Cys)
|
rs151313083
|
0.00048
|
NM_152467.5(KLHL10):c.937G>A (p.Ala313Thr)
|
rs370756367
|
0.00042
|
NM_001042697.2(ZSWIM7):c.231_232del (p.Cys78fs)
|
rs368517882
|
0.00040
|
NM_015512.5(DNAH1):c.3877G>A (p.Asp1293Asn)
|
rs140883175
|
0.00034
|
NM_031955.6(SPATA16):c.848G>A (p.Arg283Gln)
|
rs137853118
|
0.00032
|
NM_052961.4(SLC26A8):c.260G>A (p.Arg87Gln)
|
rs140210148
|
0.00031
|
NM_173812.5(DPY19L2):c.869G>A (p.Arg290His)
|
rs147579680
|
0.00023
|
NM_001321739.2(M1AP):c.797G>A (p.Arg266Gln)
|
rs149272394
|
0.00020
|
NM_002440.4(MSH4):c.2198C>A (p.Ser733Ter)
|
rs149042353
|
0.00018
|
NM_001008723.2(CFAP58):c.2092C>T (p.Arg698Ter)
|
rs369701921
|
0.00016
|
NM_025145.7(CFAP43):c.1040T>C (p.Val347Ala)
|
rs147356105
|
0.00016
|
NM_001131034.4(RNF212):c.111dup (p.Lys38Ter)
|
rs768155534
|
0.00013
|
NM_001321739.2(M1AP):c.949G>A (p.Gly317Arg)
|
rs140179344
|
0.00011
|
NM_031293.3(PMFBP1):c.2725C>T (p.Arg909Ter)
|
rs140352254
|
0.00010
|
NM_001199165.4(CEP112):c.2074C>T (p.Arg692Trp)
|
rs149561928
|
0.00009
|
NM_001206927.2(DNAH8):c.12721G>A (p.Ala4241Thr)
|
rs369473998
|
0.00007
|
NM_004959.5(NR5A1):c.634G>A (p.Gly212Ser)
|
rs201095702
|
0.00007
|
NM_001136505.2(TERB1):c.1813C>T (p.Arg605Ter)
|
rs963945421
|
0.00006
|
NM_001177949.2(SYCP3):c.657T>C (p.Thr219=)
|
rs769825641
|
0.00006
|
NM_005390.5(PDHA2):c.679A>G (p.Met227Val)
|
rs200969445
|
0.00006
|
NM_033364.4(CFAP91):c.124G>C (p.Asp42His)
|
rs149348782
|
0.00006
|
NM_002440.4(MSH4):c.2261C>T (p.Ser754Leu)
|
rs377712900
|
0.00005
|
NM_020937.4(FANCM):c.1491dup (p.Gln498fs)
|
rs797045116
|
0.00005
|
NM_198559.2(CATIP):c.103T>A (p.Phe35Ile)
|
rs141560868
|
0.00005
|
NM_001350162.2(TEX15):c.8083C>T (p.Arg2695Ter)
|
rs763654373
|
0.00004
|
NM_005893.3(CCIN):c.853G>A (p.Gly285Ser)
|
rs750854950
|
0.00004
|
NM_015512.5(DNAH1):c.11726_11727del (p.Pro3909fs)
|
rs779490893
|
0.00004
|
NM_031956.4(TTC29):c.330_334del (p.Glu111fs)
|
rs766352190
|
0.00004
|
NM_206996.4(SPAG17):c.4343G>A (p.Arg1448Gln)
|
rs752115449
|
0.00004
|
NM_001378211.1(SHOC1):c.1774C>T (p.Arg592Ter)
|
rs1004968910
|
0.00003
|
NM_001388453.1(QRICH2):c.3535C>T (p.Arg1179Ter)
|
rs777214459
|
0.00003
|
NM_025145.7(CFAP43):c.4132C>T (p.Arg1378Ter)
|
rs768831533
|
0.00003
|
NM_031272.5(TEX14):c.254G>T (p.Arg85Leu)
|
rs761592042
|
0.00003
|
NM_052961.4(SLC26A8):c.2860C>T (p.Arg954Cys)
|
rs398123027
|
0.00003
|
NM_080675.4(SUN5):c.1066C>T (p.Arg356Cys)
|
rs754130052
|
0.00003
|
NM_152448.3(TERB2):c.544dup (p.Met182fs)
|
rs1218912028
|
0.00003
|
NM_173812.5(DPY19L2):c.1183del (p.Ser395fs)
|
rs751879424
|
0.00003
|
NM_173812.5(DPY19L2):c.1218+1G>A
|
rs868256749
|
0.00003
|
NM_173812.5(DPY19L2):c.2038A>T (p.Lys680Ter)
|
rs587777205
|
0.00003
|
NM_194302.4(CFAP65):c.2284C>T (p.Arg762Ter)
|
rs756973049
|
0.00003
|
NM_207189.4(BRDT):c.2783G>A (p.Gly928Asp)
|
rs754258809
|
0.00003
|
NM_001199165.4(CEP112):c.2104C>T (p.Arg702Cys)
|
rs780421901
|
0.00002
|
NM_001271862.2(PNLDC1):c.136dup (p.Leu46fs)
|
rs754159168
|
0.00002
|
NM_001366900.1(TTC21A):c.341A>G (p.Tyr114Cys)
|
rs750057655
|
0.00002
|
NM_001378211.1(SHOC1):c.4466G>A (p.Arg1489His)
|
rs533026166
|
0.00002
|
NM_004959.5(NR5A1):c.392C>T (p.Pro131Leu)
|
rs387906690
|
0.00002
|
NM_020877.5(DNAH2):c.11503T>C (p.Ser3835Pro)
|
rs545849987
|
0.00002
|
NM_020877.5(DNAH2):c.6960C>A (p.Ser2320Arg)
|
rs763882266
|
0.00002
|
NM_033123.4(PLCZ1):c.588C>A (p.Cys196Ter)
|
rs535719220
|
0.00002
|
NM_144666.3(DNHD1):c.8909A>G (p.Tyr2970Cys)
|
rs187626415
|
0.00002
|
NM_173812.5(DPY19L2):c.893G>A (p.Arg298His)
|
rs752764341
|
0.00002
|
NM_001029860.4(FBXO43):c.1747C>T (p.Gln583Ter)
|
rs768989830
|
0.00001
|
NM_001039706.3(CFAP69):c.647G>A (p.Trp216Ter)
|
rs1355278372
|
0.00001
|
NM_001143764.3(SYCE1):c.197-2A>G
|
rs774225566
|
0.00001
|
NM_001164496.2(CFAP44):c.2005_2006del (p.Met669fs)
|
rs780798708
|
0.00001
|
NM_001199165.4(CEP112):c.496C>T (p.Arg166Ter)
|
rs143892062
|
0.00001
|
NM_001271718.2(SPINK2):c.206-3C>G
|
rs577163578
|
0.00001
|
NM_001271862.2(PNLDC1):c.1387C>T (p.Arg463Ter)
|
rs200629089
|
0.00001
|
NM_001282717.2(STAG3):c.1262T>G (p.Leu421Arg)
|
rs1161498711
|
0.00001
|
NM_001282717.2(STAG3):c.1312C>T (p.Arg438Ter)
|
rs751680143
|
0.00001
|
NM_001304548.2(CFAP47):c.5224A>G (p.Ser1742Gly)
|
rs1214810484
|
0.00001
|
NM_001304548.2(CFAP47):c.8668C>A (p.Pro2890Thr)
|
rs1317932026
|
0.00001
|
NM_001321739.2(M1AP):c.1166C>T (p.Pro389Leu)
|
rs751126701
|
0.00001
|
NM_001372106.1(DNAH10):c.13192G>A (p.Gly4398Arg)
|
rs759073156
|
0.00001
|
NM_001378211.1(SHOC1):c.1386del (p.Leu464fs)
|
rs779445148
|
0.00001
|
NM_001378211.1(SHOC1):c.2170G>A (p.Ala724Thr)
|
rs755742775
|
0.00001
|
NM_001388453.1(QRICH2):c.3999C>G (p.Tyr1333Ter)
|
rs934388592
|
0.00001
|
NM_017917.4(PPP2R3C):c.578T>C (p.Leu193Ser)
|
rs1566411552
|
0.00001
|
NM_018995.3(MOV10L1):c.2542G>A (p.Gly848Arg)
|
rs1278182234
|
0.00001
|
NM_020877.5(DNAH2):c.5770C>T (p.Arg1924Cys)
|
rs773343805
|
0.00001
|
NM_024867.4(SPEF2):c.1745-2A>G
|
rs1375975527
|
0.00001
|
NM_024867.4(SPEF2):c.4102G>T (p.Glu1368Ter)
|
rs1230916222
|
0.00001
|
NM_025145.7(CFAP43):c.253C>T (p.Arg85Trp)
|
rs376788209
|
0.00001
|
NM_025145.7(CFAP43):c.3352C>T (p.Arg1118Ter)
|
rs760609580
|
0.00001
|
NM_031293.3(PMFBP1):c.327T>A (p.Tyr109Ter)
|
rs759127010
|
0.00001
|
NM_052961.4(SLC26A8):c.290T>C (p.Leu97Pro)
|
rs1220970427
|
0.00001
|
NM_080675.4(SUN5):c.824C>T (p.Thr275Met)
|
rs756459525
|
0.00001
|
NM_144666.3(DNHD1):c.5560C>T (p.Arg1854Cys)
|
rs1035842147
|
0.00001
|
NM_144666.3(DNHD1):c.911G>A (p.Arg304Gln)
|
rs369544858
|
0.00001
|
NM_172166.4(MSH5):c.964C>T (p.Arg322Cys)
|
rs753519199
|
0.00001
|
NM_173651.4(FSIP2):c.910del (p.Gln304fs)
|
rs773975635
|
0.00001
|
NM_173812.5(DPY19L2):c.892C>T (p.Arg298Cys)
|
rs587777206
|
0.00001
|
DNALI1, IVS3, G-A, -1
|
|
|
NC_000003.12:g.113358867_113358876del
|
rs1553756374
|
|
NC_000012.12:g.(?_63558913)_(63669201_?)del
|
|
|
NC_000023.10:g.69954448_70045530del
|
|
|
NG_031909.1:g.(12232_26209)_(29173_47048)del
|
|
|
NM_001008723.2(CFAP58):c.1429del (p.Lys476_Ile477insTer)
|
rs761844995
|
|
NM_001008723.2(CFAP58):c.1696C>T (p.Gln566Ter)
|
rs544826621
|
|
NM_001008723.2(CFAP58):c.2052del (p.His685fs)
|
rs775625613
|
|
NM_001008723.2(CFAP58):c.2274C>A (p.Tyr758Ter)
|
rs2013131818
|
|
NM_001015878.2(AURKC):c.145del (p.Leu49fs)
|
rs397515619
|
|
NM_001015878.2(AURKC):c.436-2A>G
|
rs397515484
|
|
NM_001015878.2(AURKC):c.686G>A (p.Cys229Tyr)
|
rs121908654
|
|
NM_001029860.4(FBXO43):c.1991G>A (p.Gly664Asp)
|
rs954702094
|
|
NM_001031705.3(CT55):c.465T>A (p.Tyr155Ter)
|
|
|
NM_001031836.3(KCNU1):c.1237A>T (p.Ile413Phe)
|
|
|
NM_001031836.3(KCNU1):c.1295+3A>C
|
|
|
NM_001031836.3(KCNU1):c.2144A>G (p.His715Arg)
|
|
|
NM_001039706.3(CFAP69):c.1069_1070insAC (p.Leu357fs)
|
rs764048407
|
|
NM_001039706.3(CFAP69):c.763C>T (p.Gln255Ter)
|
rs1554359569
|
|
NM_001039706.3(CFAP69):c.860+1G>A
|
rs1554359685
|
|
NM_001042697.2(ZSWIM7):c.201+1G>T
|
rs2151625014
|
|
NM_001097.3(ACR):c.167G>A (p.Trp56Ter)
|
|
|
NM_001135217.2(LRRC23):c.376C>T (p.Arg126Ter)
|
|
|
NM_001135217.2(LRRC23):c.621+1G>A
|
rs1555139812
|
|
NM_001136046.3(ZMYND15):c.1520_1523del (p.Lys507fs)
|
rs587777432
|
|
NM_001136505.2(TERB1):c.1703C>G (p.Ser568Ter)
|
rs2145104416
|
|
NM_001136505.2(TERB1):c.289_290del (p.Leu97fs)
|
rs1308550551
|
|
NM_001145128.3(AK9):c.2005dup (p.Cys669fs)
|
|
|
NM_001145128.3(AK9):c.2444C>T (p.Pro815Leu)
|
|
|
NM_001145128.3(AK9):c.3391G>A (p.Glu1131Lys)
|
|
|
NM_001145128.3(AK9):c.4872_4875dup (p.Cys1626fs)
|
|
|
NM_001145304.2(IQCN):c.2453_2454del (p.Gln818fs)
|
|
|
NM_001145304.2(IQCN):c.910C>T (p.Gln304Ter)
|
|
|
NM_001163560.3(MEIOB):c.1072_1073del (p.Met358fs)
|
|
|
NM_001163560.3(MEIOB):c.191A>T (p.Asn64Ile)
|
rs1555472691
|
|
NM_001163560.3(MEIOB):c.528+3A>C
|
|
|
NM_001163560.3(MEIOB):c.683-1G>A
|
|
|
NM_001163560.3(MEIOB):c.814C>T (p.Arg272Ter)
|
|
|
NM_001163560.3(MEIOB):c.976G>A (p.Ala326Thr)
|
|
|
NM_001164496.2(CFAP44):c.1387G>T (p.Glu463Ter)
|
rs866096259
|
|
NM_001164496.2(CFAP44):c.1769T>A (p.Leu590Gln)
|
rs762760856
|
|
NM_001164496.2(CFAP44):c.2818dup (p.Glu940fs)
|
rs1553756824
|
|
NM_001164496.2(CFAP44):c.3175C>T (p.Arg1059Ter)
|
rs1262272674
|
|
NM_001168221.2(C2CD6):c.338A>G (p.His113Arg)
|
rs2105806061
|
|
NM_001177949.2(SYCP3):c.553-21_553-18del
|
rs587776620
|
|
NM_001177949.2(SYCP3):c.643del (p.Ile215fs)
|
|
|
NM_001206927.2(DNAH8):c.380_381del (p.Lys127fs)
|
rs1762922751
|
|
NM_001206927.2(DNAH8):c.6689A>G (p.Lys2230Arg)
|
rs1563044711
|
|
NM_001206927.2(DNAH8):c.6962_6968del (p.His2321fs)
|
rs752692263
|
|
NM_001271862.2(PNLDC1):c.172C>G (p.Arg58Gly)
|
rs1254456989
|
|
NM_001271862.2(PNLDC1):c.283C>T (p.Pro95Ser)
|
rs2115028353
|
|
NM_001271862.2(PNLDC1):c.640-2A>T
|
rs763048743
|
|
NM_001278309.2(AKAP3):c.2286_2287del (p.His762fs)
|
|
|
NM_001278309.2(AKAP3):c.44G>A (p.Cys15Tyr)
|
|
|
NM_001282717.2(STAG3):c.1936dup (p.Ala646fs)
|
rs1251996684
|
|
NM_001282717.2(STAG3):c.2394+1G>A
|
rs2117333857
|
|
NM_001282717.2(STAG3):c.962G>A (p.Arg321His)
|
rs1031011371
|
|
NM_001286574.2(ARMC12):c.632G>A (p.Arg211Gln)
|
|
|
NM_001286574.2(ARMC12):c.635T>C (p.Leu212Pro)
|
|
|
NM_001286574.2(ARMC12):c.686G>A (p.Cys229Tyr)
|
|
|
NM_001304548.2(CFAP47):c.7154T>A (p.Ile2385Asn)
|
rs1940460729
|
|
NM_001304548.2(CFAP47):c.[1337C>T;706G>A]
|
|
|
NM_001321739.2(M1AP):c.1435-1G>A
|
rs1677697539
|
|
NM_001350162.2(TEX15):c.3279T>G (p.Tyr1093Ter)
|
rs864309485
|
|
NM_001350162.2(TEX15):c.3568A>T (p.Lys1190Ter)
|
rs1554492164
|
|
NM_001350162.2(TEX15):c.4189del (p.Ser1397fs)
|
rs1554491783
|
|
NM_001352389.2(STK33):c.1235del (p.Thr412fs)
|
|
|
NM_001366900.1(TTC21A):c.2308C>T (p.Gln770Ter)
|
rs780431020
|
|
NM_001366900.1(TTC21A):c.2542del (p.Ala847_Val848insTer)
|
rs1559708295
|
|
NM_001366900.1(TTC21A):c.716+1G>A
|
rs1559674534
|
|
NM_001367801.1(CFAP70):c.1723-1G>T
|
rs1589391313
|
|
NM_001372106.1(DNAH10):c.12589del (p.Ser4197fs)
|
rs2137700684
|
|
NM_001372106.1(DNAH10):c.7614dup (p.Glu2539fs)
|
rs2136959456
|
|
NM_001378211.1(SHOC1):c.1656del (p.Asp553fs)
|
rs2131436525
|
|
NM_001378211.1(SHOC1):c.423_424del (p.Leu142fs)
|
rs777595871
|
|
NM_001378211.1(SHOC1):c.989del (p.Leu330fs)
|
rs2131520030
|
|
NM_001388453.1(QRICH2):c.5112C>G (p.Tyr1704Ter)
|
rs770382841
|
|
NM_001388453.1(QRICH2):c.690G>A (p.Trp230Ter)
|
rs1567790522
|
|
NM_002440.4(MSH4):c.1552C>T (p.Gln518Ter)
|
rs2100570734
|
|
NM_002440.4(MSH4):c.1950G>A (p.Trp650Ter)
|
rs149910287
|
|
NM_002440.4(MSH4):c.2179del (p.Asp727fs)
|
rs2100581757
|
|
NM_002440.4(MSH4):c.2222_2225del (p.Lys741fs)
|
rs1386320504
|
|
NM_002440.4(MSH4):c.805_812del (p.Val269fs)
|
rs2100513927
|
|
NM_003462.5(DNALI1):c.666_669del (p.Ser222fs)
|
|
|
NM_003602.5(FKBP6):c.469-2A>T
|
|
|
NM_003602.5(FKBP6):c.508_529dup (p.Phe177fs)
|
|
|
NM_003602.5(FKBP6):c.589-2A>G
|
|
|
NM_003602.5(FKBP6):c.610C>T (p.Arg204Ter)
|
|
|
NM_003602.5(FKBP6):c.832C>T (p.Arg278Ter)
|
|
|
NM_004654.4(USP9Y):c.773+3_773+6del
|
rs778145751
|
|
NM_004959.4(NR5A1):c.[368G>C;386C>T]
|
|
|
NM_005431.2(XRCC2):c.41T>C (p.Leu14Pro)
|
rs757140620
|
|
NM_005635.4(SSX1):c.*4+1G>A
|
|
|
NM_005635.4(SSX1):c.164A>G (p.Tyr55Cys)
|
|
|
NM_005635.4(SSX1):c.185_186del (p.Gly62fs)
|
|
|
NM_005640.3(TAF4B):c.1831C>T (p.Arg611Ter)
|
rs587777427
|
|
NM_005893.3(CCIN):c.125A>T (p.His42Leu)
|
|
|
NM_005893.3(CCIN):c.1294C>T (p.Arg432Trp)
|
|
|
NM_005893.3(CCIN):c.1341C>A (p.Cys447Ter)
|
|
|
NM_005893.3(CCIN):c.230T>C (p.Leu77Pro)
|
|
|
NM_006687.4(ACTL7A):c.1084G>A (p.Gly362Arg)
|
|
|
NM_006687.4(ACTL7A):c.146C>G (p.Ser49Ter)
|
|
|
NM_006687.4(ACTL7A):c.463C>T (p.Arg155Ter)
|
|
|
NM_006687.4(ACTL7A):c.733G>A (p.Ala245Thr)
|
|
|
NM_006687.4(ACTL7A):c.737G>C (p.Gly246Ala)
|
|
|
NM_007009.3(ZPBP):c.931C>T (p.Gln311Ter)
|
rs2128782038
|
|
NM_014258.4(SYCP2):c.2022_2025del (p.Lys674fs)
|
rs1600877766
|
|
NM_014258.4(SYCP2):c.2793_2797del (p.Lys932fs)
|
rs1600840291
|
|
NM_014258.4(SYCP2):c.3067_3071del (p.Lys1023fs)
|
rs753462162
|
|
NM_015512.5(DNAH1):c.11788-1G>A
|
rs1131692234
|
|
NM_015512.5(DNAH1):c.3860T>G (p.Val1287Gly)
|
rs1131692251
|
|
NM_015512.5(DNAH1):c.8626-1G>A
|
rs1131692250
|
|
NM_015585.4(CFAP61):c.143+5G>A
|
|
|
NM_015585.4(CFAP61):c.144-2A>G
|
|
|
NM_015585.4(CFAP61):c.1654C>T (p.Arg552Cys)
|
|
|
NM_015585.4(CFAP61):c.1666G>A (p.Gly556Arg)
|
|
|
NM_015585.4(CFAP61):c.2911G>A (p.Asp971Asn)
|
|
|
NM_015585.4(CFAP61):c.452_453del (p.Ile151fs)
|
|
|
NM_015585.4(CFAP61):c.847C>T (p.Arg283Ter)
|
|
|
NM_017917.4(PPP2R3C):c.1049T>C (p.Phe350Ser)
|
rs1566684983
|
|
NM_017917.4(PPP2R3C):c.308T>C (p.Leu103Pro)
|
rs754106837
|
|
NM_018995.3(MOV10L1):c.2447G>T (p.Ser816Ile)
|
rs1479684172
|
|
NM_018995.3(MOV10L1):c.3095_3098del (p.Pro1032fs)
|
rs2147023849
|
|
NM_020877.5(DNAH2):c.11500C>T (p.Arg3834Ter)
|
rs369801878
|
|
NM_020877.5(DNAH2):c.9298C>T (p.Arg3100Trp)
|
rs201414958
|
|
NM_020879.3(CCDC146):c.1084C>T (p.Arg362Ter)
|
|
|
NM_020879.3(CCDC146):c.2112del (p.Arg704fs)
|
|
|
NM_020937.4(FANCM):c.1946_1958del (p.Pro649fs)
|
rs1555363275
|
|
NM_020937.4(FANCM):c.4387-10A>G
|
rs1555365959
|
|
NM_024867.4(SPEF2):c.13del (p.Leu5fs)
|
rs1391102782
|
|
NM_024867.4(SPEF2):c.2735del (p.Pro912fs)
|
rs1580383744
|
|
NM_024867.4(SPEF2):c.3240del (p.Phe1080fs)
|
rs1580529760
|
|
NM_024867.4(SPEF2):c.4326dup (p.Val1443fs)
|
rs1580704451
|
|
NM_024867.4(SPEF2):c.4952del (p.Val1651fs)
|
rs1580783651
|
|
NM_025103.4(IFT74):c.256G>A (p.Gly86Ser)
|
rs2131525662
|
|
NM_025132.4(WDR19):c.3811A>G (p.Lys1271Glu)
|
rs2109521864
|
|
NM_025145.7(CFAP43):c.1240_1241del (p.Val414fs)
|
rs753300178
|
|
NM_025145.7(CFAP43):c.1302dup (p.Leu435fs)
|
rs1554882484
|
|
NM_025145.7(CFAP43):c.2802T>A (p.Cys934Ter)
|
rs373911488
|
|
NM_025145.7(CFAP43):c.3541-2A>C
|
rs1554862953
|
|
NM_025145.7(CFAP43):c.3661-2del
|
rs1554861288
|
|
NM_025145.7(CFAP43):c.386C>A (p.Ser129Tyr)
|
rs1131692266
|
|
NM_025145.7(CFAP43):c.3945-263_4431+252del
|
|
|
NM_030771.2(CCDC34):c.731dup (p.Asn244fs)
|
|
|
NM_030771.2(CCDC34):c.799_817del (p.Glu267fs)
|
|
|
NM_030960.3(SPACA1):c.53G>A (p.Trp18Ter)
|
|
|
NM_031272.5(TEX14):c.2650_2660del (p.Ser884fs)
|
rs1555568575
|
|
NM_031293.3(PMFBP1):c.1462C>T (p.Gln488Ter)
|
rs777263062
|
|
NM_031293.3(PMFBP1):c.2092del (p.Ala698fs)
|
rs1567621034
|
|
NM_031293.3(PMFBP1):c.2561_2562del (p.Lys854fs)
|
rs772371753
|
|
NM_031898.3(TEKT3):c.543_547delinsTTGA (p.Glu182_Arg183delinsTer)
|
|
|
NM_031898.3(TEKT3):c.548G>A (p.Arg183Gln)
|
|
|
NM_031898.3(TEKT3):c.752A>C (p.Gln251Pro)
|
|
|
NM_031907.3(USP26):c.2396A>G (p.Asn799Ser)
|
|
|
NM_031907.3(USP26):c.2473C>G (p.Arg825Gly)
|
|
|
NM_031956.4(TTC29):c.*334G>A
|
rs1579486914
|
|
NM_031956.4(TTC29):c.1107C>G (p.Tyr369Ter)
|
rs1489738488
|
|
NM_031956.4(TTC29):c.412_425del (p.Asp138fs)
|
rs1579951018
|
|
NM_031956.4(TTC29):c.750C>A (p.Tyr250Ter)
|
rs763399136
|
|
NM_031956.4(TTC29):c.977+1G>T
|
rs1579787268
|
|
NM_032131.6(ARMC2):c.1023+1G>A
|
rs1562372417
|
|
NM_032131.6(ARMC2):c.1284_1288del (p.Lys428fs)
|
rs1562381747
|
|
NM_032131.6(ARMC2):c.2279T>A (p.Ile760Asn)
|
rs1562435988
|
|
NM_032131.6(ARMC2):c.2353_2354del (p.Leu785fs)
|
rs1562436860
|
|
NM_032131.6(ARMC2):c.421C>T (p.Gln141Ter)
|
rs1562332833
|
|
NM_033123.4(PLCZ1):c.1048T>C (p.Ser350Pro)
|
rs1955655663
|
|
NM_033123.4(PLCZ1):c.1174+3A>C
|
|
|
NM_033123.4(PLCZ1):c.1274A>G (p.Asn425Ser)
|
|
|
NM_033123.4(PLCZ1):c.1358G>A (p.Gly453Asp)
|
|
|
NM_033123.4(PLCZ1):c.136-1G>C
|
|
|
NM_033123.4(PLCZ1):c.1465A>T (p.Ile489Phe)
|
rs757326350
|
|
NM_033123.4(PLCZ1):c.736C>T (p.Leu246Phe)
|
rs1956460756
|
|
NM_033364.4(CFAP91):c.682+1G>A
|
rs147597066
|
|
NM_052957.5(GCNA):c.1180G>T (p.Glu394Ter)
|
rs2147729149
|
|
NM_052957.5(GCNA):c.1507del (p.Glu504fs)
|
rs2147732931
|
|
NM_052957.5(GCNA):c.343del (p.Ala115fs)
|
rs2147727146
|
|
NM_052957.5(GCNA):c.653_654delinsGC (p.Lys218Ser)
|
rs2147728009
|
|
NM_052961.4(SLC26A8):c.1664del (p.Ile555fs)
|
rs2127298549
|
|
NM_052961.4(SLC26A8):c.212G>T (p.Arg71Leu)
|
rs116146081
|
|
NM_053054.4(CATSPER1):c.539dup (p.His182fs)
|
rs193929390
|
|
NM_053054.4(CATSPER1):c.944_948dup (p.Asp317fs)
|
rs193929391
|
|
NM_080675.4(SUN5):c.381del (p.Val128fs)
|
rs781693813
|
|
NM_080675.4(SUN5):c.485T>A (p.Met162Lys)
|
rs886041023
|
|
NM_080675.4(SUN5):c.781G>A (p.Val261Met)
|
rs886041024
|
|
NM_080675.4(SUN5):c.851C>G (p.Ser284Ter)
|
rs886041025
|
|
NM_080746.3(RPL10L):c.257A>C (p.His86Pro)
|
rs1883886214
|
|
NM_144666.3(DNHD1):c.522_525del (p.Arg174fs)
|
rs756886777
|
|
NM_144666.3(DNHD1):c.6498T>G (p.Tyr2166Ter)
|
rs61729699
|
|
NM_144668.6(CFAP251):c.123del (p.Asp42fs)
|
rs749163856
|
|
NM_144668.6(CFAP251):c.1588_1589del (p.Leu530fs)
|
rs1565912409
|
|
NM_144668.6(CFAP251):c.3007-4915_3338-930del
|
|
|
NM_144688.5(KASH5):c.-95-2_798+248del
|
|
|
NM_144688.5(KASH5):c.1271_1274del (p.Arg424fs)
|
|
|
NM_144688.5(KASH5):c.1604T>A (p.Leu535Gln)
|
|
|
NM_144688.5(KASH5):c.590T>C (p.Leu197Pro)
|
|
|
NM_144688.5(KASH5):c.981_982del (p.Arg327fs)
|
|
|
NM_145038.5(DRC1):c.1660C>T (p.Arg554Ter)
|
|
|
NM_145038.5(DRC1):c.238C>T (p.Arg80Ter)
|
|
|
NM_152327.5(AK7):c.2018T>G (p.Leu673Arg)
|
rs116298211
|
|
NM_152448.3(TERB2):c.457_458del (p.Thr153fs)
|
rs2141244939
|
|
NM_152467.5(KLHL10):c.1302+123_1302+126del
|
rs534770865
|
|
NM_152657.4(GGN):c.1271del (p.Gly424fs)
|
rs751658286
|
|
NM_152657.4(GGN):c.416_437del (p.Leu139fs)
|
rs2145140504
|
|
NM_153046.3(TDRD9):c.720_723del (p.Ser241fs)
|
rs765353898
|
|
NM_172166.4(MSH5):c.1857del (p.Ala620fs)
|
rs1562249204
|
|
NM_172166.4(MSH5):c.75dup (p.Ser26fs)
|
rs961633772
|
|
NM_173628.4(DNAH17):c.1293_1294del (p.Tyr431_Lys432delinsTer)
|
rs767723684
|
|
NM_173628.4(DNAH17):c.5408G>A (p.Cys1803Tyr)
|
rs2146716548
|
|
NM_173628.4(DNAH17):c.5486G>A (p.Cys1829Tyr)
|
rs1598595659
|
|
NM_173628.4(DNAH17):c.5707C>T (p.Arg1903Cys)
|
rs775503600
|
|
NM_173628.4(DNAH17):c.7994_8012del (p.Gly2665fs)
|
rs1598525781
|
|
NM_173628.4(DNAH17):c.[10496C>T;10784T>C]
|
|
|
NM_173628.4(DNAH17):c.[11803C>T;6308C>T]
|
|
|
NM_173651.4(FSIP2):c.10823T>C (p.Leu3608Ser)
|
|
|
NM_173651.4(FSIP2):c.1607_1616delinsTGT (p.Lys536fs)
|
rs1559024613
|
|
NM_173651.4(FSIP2):c.16393_16396del (p.Asn5465fs)
|
rs1559034750
|
|
NM_173651.4(FSIP2):c.17798C>T (p.Ser5933Phe)
|
|
|
NM_173651.4(FSIP2):c.18448G>A (p.Val6150Ile)
|
|
|
NM_173651.4(FSIP2):c.19981C>T (p.Arg6661Ter)
|
|
|
NM_173651.4(FSIP2):c.2282dup (p.Asn761fs)
|
rs1559025141
|
|
NM_173651.4(FSIP2):c.5237AAG[1] (p.Glu1747del)
|
|
|
NM_173651.4(FSIP2):c.5480A>T (p.Asp1827Val)
|
|
|
NM_173651.4(FSIP2):c.9056T>C (p.Ile3019Thr)
|
|
|
NM_174978.3(C14orf39):c.1180-3C>G
|
rs1891315296
|
|
NM_174978.3(C14orf39):c.204_205del (p.His68fs)
|
rs1406759691
|
|
NM_174978.3(C14orf39):c.958G>T (p.Glu320Ter)
|
rs997282049
|
|
NM_178525.5(ACTL9):c.1034C>T (p.Ser345Leu)
|
rs1478948010
|
|
NM_178525.5(ACTL9):c.1138G>T (p.Val380Leu)
|
rs532021673
|
|
NM_178525.5(ACTL9):c.1209C>G (p.Tyr403Ter)
|
rs34687433
|
|
NM_182911.4(TSGA10):c.211del
|
rs1553482689
|
|
NM_194302.4(CFAP65):c.1580del (p.Leu527fs)
|
rs1574628422
|
|
NM_194302.4(CFAP65):c.2675G>A (p.Trp892Ter)
|
rs1457312523
|
|
NM_194302.4(CFAP65):c.5341G>T (p.Glu1781Ter)
|
rs1269179049
|
|
NM_198968.4(DZIP1):c.188G>A (p.Arg63Gln)
|
rs1878524886
|
|
NM_198968.4(DZIP1):c.690T>G (p.Tyr230Ter)
|
rs1877018344
|
|
NM_199461.2(NANOS1):c.[737G>A;826_827delinsTA]
|
|
|
NM_199461.4(NANOS1):c.231CTC[3] (p.Ser83del)
|
rs587777031
|
|
NM_199461.4(NANOS1):c.502GCC[5] (p.Ala173del)
|
rs538539239
|
|
NM_201435.5(CCDC62):c.442C>T (p.Gln148Ter)
|
rs1021793710
|
|